Incidental Mutation 'R4746:Ttll3'
ID 356725
Institutional Source Beutler Lab
Gene Symbol Ttll3
Ensembl Gene ENSMUSG00000030276
Gene Name tubulin tyrosine ligase-like family, member 3
Synonyms 4833441J24Rik
MMRRC Submission 041968-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4746 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 113366221-113391548 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 113384353 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Proline at position 557 (Q557P)
Ref Sequence ENSEMBL: ENSMUSP00000032414 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032414] [ENSMUST00000038889] [ENSMUST00000205017]
AlphaFold A4Q9E5
Predicted Effect probably damaging
Transcript: ENSMUST00000032414
AA Change: Q557P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000032414
Gene: ENSMUSG00000030276
AA Change: Q557P

DomainStartEndE-ValueType
low complexity region 3 20 N/A INTRINSIC
low complexity region 214 231 N/A INTRINSIC
low complexity region 234 248 N/A INTRINSIC
Pfam:TTL 404 698 7.7e-84 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000038889
AA Change: Q558P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000037870
Gene: ENSMUSG00000030276
AA Change: Q558P

DomainStartEndE-ValueType
low complexity region 3 20 N/A INTRINSIC
low complexity region 214 231 N/A INTRINSIC
low complexity region 234 248 N/A INTRINSIC
Pfam:TTL 404 699 9e-85 PFAM
Predicted Effect not run
Transcript: ENSMUST00000138131
AA Change: Q404P
Predicted Effect
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203925
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204255
Predicted Effect probably benign
Transcript: ENSMUST00000205017
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.4%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit a reduced number of primary cilia in colon epithelia accompanied by an increased rate of cell division which is compensated by faster tissue turnover in the colon. Mice exhibit increased incidence of colon tumors by chemical induction. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6820408C15Rik G A 2: 152,282,685 (GRCm39) S180N probably benign Het
Atp5f1a G T 18: 77,866,442 (GRCm39) G165V probably benign Het
Cbfa2t2 A C 2: 154,365,845 (GRCm39) M352L possibly damaging Het
Ccser2 A T 14: 36,631,082 (GRCm39) D98E probably damaging Het
Cfap20 A G 8: 96,148,684 (GRCm39) probably null Het
Chuk A T 19: 44,077,210 (GRCm39) C379S possibly damaging Het
Cic G A 7: 24,987,905 (GRCm39) G1531E probably damaging Het
Ckap4 A G 10: 84,369,384 (GRCm39) V116A possibly damaging Het
Cxcl13 A G 5: 96,107,756 (GRCm39) K71E probably damaging Het
Dmxl2 A T 9: 54,359,080 (GRCm39) I210N probably benign Het
Donson A C 16: 91,479,125 (GRCm39) V397G probably damaging Het
Dpy19l1 C A 9: 24,361,966 (GRCm39) V332L probably benign Het
Dsp T C 13: 38,379,080 (GRCm39) S1343P possibly damaging Het
Egflam A G 15: 7,254,120 (GRCm39) probably null Het
Eif2b4 A G 5: 31,344,997 (GRCm39) I550T probably damaging Het
Fbxo47 A T 11: 97,770,254 (GRCm39) V46D probably benign Het
Fkbpl G A 17: 34,864,303 (GRCm39) A24T probably benign Het
Folr1 T A 7: 101,513,184 (GRCm39) D37V probably damaging Het
Gm17333 AAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA AAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA 16: 77,649,766 (GRCm39) noncoding transcript Het
Gnb1 C A 4: 155,627,531 (GRCm39) A104E probably damaging Het
Gnptg ATTGTTGATGATTT AT 17: 25,454,571 (GRCm39) probably benign Het
Htra4 A T 8: 25,523,713 (GRCm39) V284E probably damaging Het
Igkv3-3 A T 6: 70,664,308 (GRCm39) D50V probably benign Het
Irs3 A G 5: 137,642,209 (GRCm39) S410P probably benign Het
Kif26b C T 1: 178,701,546 (GRCm39) Q642* probably null Het
Klhl11 A T 11: 100,355,176 (GRCm39) M215K probably benign Het
Lamc3 A G 2: 31,795,626 (GRCm39) N337S possibly damaging Het
Lrrc55 G A 2: 85,026,514 (GRCm39) A170V probably damaging Het
Marchf3 A T 18: 56,909,144 (GRCm39) W214R probably damaging Het
Megf11 A C 9: 64,416,027 (GRCm39) T79P probably damaging Het
Mia3 A G 1: 183,126,663 (GRCm39) V26A possibly damaging Het
Myrf A G 19: 10,195,955 (GRCm39) F353S probably damaging Het
Obscn A G 11: 58,970,634 (GRCm39) probably null Het
Ocstamp T C 2: 165,238,208 (GRCm39) K352R probably benign Het
Or2t35 A T 14: 14,407,359 (GRCm38) I46F probably benign Het
Or8b12 G T 9: 37,657,453 (GRCm39) V8L probably benign Het
Osbpl3 T C 6: 50,305,654 (GRCm39) N434S probably damaging Het
Pign A C 1: 105,512,749 (GRCm39) L645V probably benign Het
Polr1has A T 17: 37,275,765 (GRCm39) I116L probably benign Het
Polr2a A G 11: 69,626,500 (GRCm39) S1540P probably benign Het
Ppp2r3c A T 12: 55,349,420 (GRCm39) probably null Het
Ptprf A G 4: 118,082,236 (GRCm39) V414A possibly damaging Het
Pyroxd2 G A 19: 42,740,839 (GRCm39) R22* probably null Het
Rab11fip2 G A 19: 59,925,542 (GRCm39) A225V probably damaging Het
Ranbp2 C T 10: 58,328,492 (GRCm39) A2836V probably damaging Het
Rimklb G A 6: 122,449,591 (GRCm39) R28* probably null Het
Scyl3 G A 1: 163,776,820 (GRCm39) R404Q probably damaging Het
Slc9a8 A T 2: 167,283,090 (GRCm39) K79* probably null Het
Sowaha A T 11: 53,370,163 (GRCm39) probably null Het
Tnk1 A G 11: 69,745,992 (GRCm39) V311A probably damaging Het
Tnrc6a T A 7: 122,789,220 (GRCm39) S1680T probably damaging Het
Tpp1 T C 7: 105,398,158 (GRCm39) Y335C probably damaging Het
Ttc39b A G 4: 83,162,340 (GRCm39) V308A probably benign Het
Ulk3 G A 9: 57,500,201 (GRCm39) A266T probably benign Het
Wfdc6b C A 2: 164,459,353 (GRCm39) C138* probably null Het
Other mutations in Ttll3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01338:Ttll3 APN 6 113,371,690 (GRCm39) missense probably damaging 1.00
IGL01677:Ttll3 APN 6 113,389,945 (GRCm39) missense probably benign
IGL01697:Ttll3 APN 6 113,376,690 (GRCm39) missense probably benign 0.00
IGL01944:Ttll3 APN 6 113,391,076 (GRCm39) missense probably benign
IGL02688:Ttll3 APN 6 113,376,700 (GRCm39) missense probably benign 0.00
IGL03068:Ttll3 APN 6 113,386,158 (GRCm39) missense probably damaging 1.00
R0373:Ttll3 UTSW 6 113,375,738 (GRCm39) missense probably damaging 1.00
R0472:Ttll3 UTSW 6 113,386,300 (GRCm39) missense probably damaging 1.00
R0625:Ttll3 UTSW 6 113,385,864 (GRCm39) critical splice acceptor site probably null
R1868:Ttll3 UTSW 6 113,369,725 (GRCm39) missense possibly damaging 0.95
R2026:Ttll3 UTSW 6 113,375,731 (GRCm39) missense probably damaging 1.00
R2061:Ttll3 UTSW 6 113,386,003 (GRCm39) missense possibly damaging 0.76
R2128:Ttll3 UTSW 6 113,389,895 (GRCm39) missense probably benign 0.31
R2896:Ttll3 UTSW 6 113,369,683 (GRCm39) missense probably benign 0.15
R2903:Ttll3 UTSW 6 113,384,284 (GRCm39) missense probably damaging 0.99
R2906:Ttll3 UTSW 6 113,369,471 (GRCm39) unclassified probably benign
R4659:Ttll3 UTSW 6 113,391,102 (GRCm39) missense probably benign
R4984:Ttll3 UTSW 6 113,389,901 (GRCm39) missense probably benign 0.00
R5358:Ttll3 UTSW 6 113,378,292 (GRCm39) missense probably benign 0.26
R5372:Ttll3 UTSW 6 113,378,382 (GRCm39) nonsense probably null
R5525:Ttll3 UTSW 6 113,389,939 (GRCm39) missense probably benign
R5548:Ttll3 UTSW 6 113,370,078 (GRCm39) missense probably damaging 1.00
R5694:Ttll3 UTSW 6 113,376,669 (GRCm39) missense probably damaging 1.00
R5993:Ttll3 UTSW 6 113,374,992 (GRCm39) nonsense probably null
R6119:Ttll3 UTSW 6 113,371,702 (GRCm39) missense probably damaging 1.00
R6268:Ttll3 UTSW 6 113,369,524 (GRCm39) missense probably benign 0.00
R6719:Ttll3 UTSW 6 113,375,993 (GRCm39) intron probably benign
R6852:Ttll3 UTSW 6 113,376,120 (GRCm39) frame shift probably null
R6852:Ttll3 UTSW 6 113,376,116 (GRCm39) frame shift probably null
R6852:Ttll3 UTSW 6 113,376,118 (GRCm39) frame shift probably null
R6853:Ttll3 UTSW 6 113,376,118 (GRCm39) frame shift probably null
R6854:Ttll3 UTSW 6 113,376,118 (GRCm39) frame shift probably null
R7170:Ttll3 UTSW 6 113,390,839 (GRCm39) missense probably benign 0.41
R7239:Ttll3 UTSW 6 113,376,118 (GRCm39) frame shift probably null
R7302:Ttll3 UTSW 6 113,386,246 (GRCm39) missense probably damaging 1.00
R7330:Ttll3 UTSW 6 113,376,125 (GRCm39) frame shift probably null
R7330:Ttll3 UTSW 6 113,376,118 (GRCm39) frame shift probably null
R7586:Ttll3 UTSW 6 113,376,118 (GRCm39) frame shift probably null
R7587:Ttll3 UTSW 6 113,376,118 (GRCm39) frame shift probably null
R7701:Ttll3 UTSW 6 113,376,118 (GRCm39) frame shift probably null
R7702:Ttll3 UTSW 6 113,376,118 (GRCm39) frame shift probably null
R7776:Ttll3 UTSW 6 113,376,120 (GRCm39) frame shift probably null
R7793:Ttll3 UTSW 6 113,376,120 (GRCm39) frame shift probably null
R7797:Ttll3 UTSW 6 113,371,738 (GRCm39) missense possibly damaging 0.76
R7824:Ttll3 UTSW 6 113,376,118 (GRCm39) frame shift probably null
R7825:Ttll3 UTSW 6 113,376,120 (GRCm39) frame shift probably null
R7825:Ttll3 UTSW 6 113,376,118 (GRCm39) frame shift probably null
R7826:Ttll3 UTSW 6 113,376,118 (GRCm39) frame shift probably null
R7827:Ttll3 UTSW 6 113,376,123 (GRCm39) frame shift probably null
R7827:Ttll3 UTSW 6 113,376,118 (GRCm39) frame shift probably null
R7831:Ttll3 UTSW 6 113,376,118 (GRCm39) frame shift probably null
R7832:Ttll3 UTSW 6 113,376,118 (GRCm39) frame shift probably null
R7833:Ttll3 UTSW 6 113,386,298 (GRCm39) missense probably damaging 1.00
R7966:Ttll3 UTSW 6 113,376,118 (GRCm39) frame shift probably null
R8344:Ttll3 UTSW 6 113,371,959 (GRCm39) missense probably damaging 1.00
R8418:Ttll3 UTSW 6 113,371,734 (GRCm39) missense probably benign 0.04
R8768:Ttll3 UTSW 6 113,385,949 (GRCm39) missense probably damaging 1.00
R9017:Ttll3 UTSW 6 113,389,850 (GRCm39) missense probably benign 0.00
R9036:Ttll3 UTSW 6 113,376,657 (GRCm39) missense possibly damaging 0.47
R9090:Ttll3 UTSW 6 113,369,596 (GRCm39) missense probably benign
R9271:Ttll3 UTSW 6 113,369,596 (GRCm39) missense probably benign
R9329:Ttll3 UTSW 6 113,369,635 (GRCm39) missense probably benign
R9532:Ttll3 UTSW 6 113,385,970 (GRCm39) missense possibly damaging 0.69
R9535:Ttll3 UTSW 6 113,389,834 (GRCm39) missense probably damaging 1.00
R9725:Ttll3 UTSW 6 113,386,114 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGAAGCTGGTGGACTGCAAC -3'
(R):5'- ACTCTACAAGCTCCTACAGGGTG -3'

Sequencing Primer
(F):5'- TGGTGGACTGCAACCCCATG -3'
(R):5'- CTCCTACAGGGTGGAAGGATG -3'
Posted On 2015-11-11